// Genomic region annotation with ClinGen information. syntax = "proto3"; package annonars.regions.clingen; import "annonars/genes/base.proto"; // Dosage pathogenicity region annotation. message Region { // ISCA ID string isca_id = 1; // ISCA Region Name string isca_region_name = 2; // Genomic locaion. string genomic_location = 3; // Haploinsufficiency score. annonars.genes.base.ClingenDosageScore haploinsufficiency_score = 4; // Triplosensitivity score. annonars.genes.base.ClingenDosageScore triplosensitivity_score = 5; // Haploinsufficiency Disease ID. optional string haploinsufficiency_disease_id = 6; // Haploinsufficiency Disease ID. optional string triplosensitivity_disease_id = 7; }